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Article

Genetic heterogeneity of Meckel syndrome.

Journal of medical genetics - 1 Dec 1997

Roume J, Ma H W, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A

Abstract excerpt

Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this population. Here, we...

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Identifiers

PMID: 9429143
DOI: 10.1136/jmg.34.12.1003
PMCID: PMC1051152

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic heterogeneity of Meckel syndrome.PMID 9429143Read ↗

Clinical and genetic heterogeneity in Meckel syndrome.Semantic proximity Read ↗

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Semantic proximity Read ↗

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.Semantic proximity Read ↗

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.Semantic proximity Read ↗

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.Semantic proximity Read ↗

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).Semantic proximity Read ↗

Evidence of a genetic heterogeneity of familial hydatidiform moles.Semantic proximity Read ↗

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.Semantic proximity Read ↗

[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].Semantic proximity Read ↗

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?Semantic proximity Read ↗

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.Semantic proximity Read ↗

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.Semantic proximity Read ↗

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